Mutagenetix > Incidental Mutations

Incidental Mutation 'R5862:Shkbp1'

453963

Institutional Source

Beutler Lab

Gene Symbol

Shkbp1

Ensembl Gene

ENSMUSG00000089832

Gene Name

Sh3kbp1 binding protein 1

Synonyms

B930062H15Rik, SB1

MMRRC Submission

043231-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27342133-27356019 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 27343404 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 536 (S536*)

Ref Sequence

ENSEMBL: ENSMUSP00000003857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003857]

Predicted Effect

probably null
Transcript: ENSMUST00000003857
AA Change: S536*

SMART Domains

Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: S536*

Domain	Start	End	E-Value	Type
BTB	19	119	1.65e-16	SMART
low complexity region	183	194	N/A	INTRINSIC
Blast:WD40	196	271	1e-21	BLAST
WD40	277	313	1.9e2	SMART
WD40	419	457	3.45e-1	SMART
WD40	527	577	3.68e1	SMART
low complexity region	612	631	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132046

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152053

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,788,330	Y326H	probably damaging	Het
Alpk2	T	A	18: 65,307,289	K811N	probably damaging	Het
Ap3b1	T	A	13: 94,547,770	M1014K	unknown	Het
Bphl	G	A	13: 34,063,984	V247I	possibly damaging	Het
C6	A	T	15: 4,735,263	D147V	possibly damaging	Het
Clec18a	G	A	8: 111,081,558	H71Y	possibly damaging	Het
Cse1l	A	G	2: 166,915,207	T10A	probably benign	Het
Cyp2b9	G	T	7: 26,187,807	G214C	probably benign	Het
Dctn6	A	T	8: 34,108,417		probably null	Het
Dnaja4	G	T	9: 54,699,341		probably benign	Het
Dpp8	A	T	9: 65,045,722	S227C	probably benign	Het
Ecel1	T	C	1: 87,149,596	N630S	probably benign	Het
Etnppl	T	C	3: 130,631,824	V426A	possibly damaging	Het
Golgb1	A	T	16: 36,926,091		silent	Het
H2afy	T	A	13: 56,074,271	I359L	probably damaging	Het
Hapln3	A	T	7: 79,121,891	H83Q	possibly damaging	Het
Hmgxb4	A	G	8: 75,001,055	K222R	probably damaging	Het
Hsf5	C	A	11: 87,622,991	T294K	probably damaging	Het
Ighv12-2	A	G	12: 114,127,937		noncoding transcript	Het
Lrch3	A	T	16: 32,995,809	H587L	probably damaging	Het
Mboat1	C	T	13: 30,235,697	T339M	probably damaging	Het
Mief1	G	A	15: 80,248,385	R156Q	probably benign	Het
Ms4a6b	T	A	19: 11,521,803	F94I	probably benign	Het
Neb	T	A	2: 52,179,542	R307*	probably null	Het
Neu4	A	G	1: 94,022,930	I147V	probably benign	Het
Olfr1036	T	C	2: 86,075,646	I302T	probably benign	Het
Pcyox1	A	G	6: 86,391,674		probably null	Het
Pik3ap1	T	A	19: 41,332,345	D145V	probably damaging	Het
Pja2	T	C	17: 64,297,826	D454G	probably benign	Het
Plekhg1	C	T	10: 3,937,914	T281M	probably damaging	Het
Ptprq	T	C	10: 107,565,878	I1918V	probably benign	Het
Rasgef1a	A	C	6: 118,080,444	R35S	probably benign	Het
Rnf167	A	G	11: 70,651,092	T308A	probably damaging	Het
Sfmbt2	C	T	2: 10,402,052	T54I	possibly damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Taf2	C	A	15: 55,048,323	V566L	possibly damaging	Het
Tmed6	G	T	8: 107,064,154	T87K	probably damaging	Het
Tyms	A	T	5: 30,063,410	D97E	probably damaging	Het
Usp20	T	A	2: 31,006,449	L188*	probably null	Het
Zbtb10	T	A	3: 9,265,216	S545T	probably damaging	Het
Zscan29	G	T	2: 121,164,037	T489N	probably damaging	Het

Other mutations in Shkbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Shkbp1	APN	7	27355251	missense	probably benign	0.28
IGL01469:Shkbp1	APN	7	27355941	missense	probably benign
IGL01787:Shkbp1	APN	7	27342450	missense	possibly damaging	0.93
IGL02149:Shkbp1	APN	7	27342639	unclassified	probably benign
IGL02902:Shkbp1	APN	7	27342716	missense	probably damaging	0.97
R0086:Shkbp1	UTSW	7	27352026	missense	probably benign	0.00
R0219:Shkbp1	UTSW	7	27352061	missense	probably benign	0.01
R0485:Shkbp1	UTSW	7	27348581	missense	probably damaging	1.00
R1036:Shkbp1	UTSW	7	27345296	missense	possibly damaging	0.86
R1468:Shkbp1	UTSW	7	27345326	missense	probably damaging	1.00
R1468:Shkbp1	UTSW	7	27345326	missense	probably damaging	1.00
R1608:Shkbp1	UTSW	7	27354779	missense	probably benign	0.01
R1757:Shkbp1	UTSW	7	27342351	missense	probably benign
R1968:Shkbp1	UTSW	7	27355400	critical splice donor site	probably null
R2763:Shkbp1	UTSW	7	27347029	missense	probably benign	0.05
R3027:Shkbp1	UTSW	7	27343393	missense	probably benign	0.18
R3924:Shkbp1	UTSW	7	27342402	missense	probably benign
R4425:Shkbp1	UTSW	7	27343302	missense	probably benign	0.38
R5048:Shkbp1	UTSW	7	27352096	unclassified	probably benign
R5955:Shkbp1	UTSW	7	27342524	missense	probably benign
R6016:Shkbp1	UTSW	7	27354401	missense	possibly damaging	0.92
R6226:Shkbp1	UTSW	7	27351980	missense	probably null	1.00
R6362:Shkbp1	UTSW	7	27351695	critical splice donor site	probably null
R6382:Shkbp1	UTSW	7	27352059	nonsense	probably null
R6460:Shkbp1	UTSW	7	27350538	missense	probably benign	0.01
R6647:Shkbp1	UTSW	7	27342375	missense	probably benign
R7025:Shkbp1	UTSW	7	27355281	missense	possibly damaging	0.47
R7255:Shkbp1	UTSW	7	27342748	missense	possibly damaging	0.93
R7522:Shkbp1	UTSW	7	27347158	missense	possibly damaging	0.88
R7571:Shkbp1	UTSW	7	27347131	missense	possibly damaging	0.90
R8207:Shkbp1	UTSW	7	27352684	missense	probably benign	0.01
Z1177:Shkbp1	UTSW	7	27347001	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCAGGGAATACCAGGAGTTT -3'
(R):5'- CTGGATGGGGATGGATACGG -3'

Sequencing Primer
(F):5'- ATACCAGGAGTTTGGCCCAG -3'
(R):5'- TGGATAAGGAGTGGTGGATAATG -3'

Posted On

2017-02-10